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A novel homozygous variant in NLRP5 is associate with human early embryonic arrest in a consanguineous Chinese family.

Clinical genetics - 1 Jul 2020

Xu Yao, Qian Ying, Liu Yu, Wang Qiaofeng, Wang Rongxiang, Zhou Yiwen, Zhang Caixia, Pang Zhi, Ye Hongjuan, Xue Songguo, Sun Lihua

Abstract excerpt

Early embryonic arrest is one of the major causes of recurrent assisted reproduction failure. It is characterized by delayed embryonic development and failure to form viable eight-cell stage embryos on day 3 of an assisted reproduction cycle. A recent study reported that biallelic mutations in NLRP5 can cause early embryonic arrest. NLRP5 is a member of subcortical maternal complex, which plays a significant role...

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Asian People
Autoantigens
Cell Line
Embryonic Development
HEK293 Cells

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mitochondrial Proteins

Nuclear Proteins

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PMID: 32222962
DOI: 10.1111/cge.13744

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A novel homozygous variant in NLRP5 is associate with human early embryonic arrest in a consanguineous Chinese family.PMID 32222962Read ↗

Biallelic Recessive Mutations in TLE6 and NLRP5 Cause Female Infertility Characterized by Human Early Embryonic ArrestSemantic proximity Read ↗

Mutations in OOEP and NLRP5 identified in infertile patients with early embryonic arrest.Semantic proximity Read ↗

Mutations in NLRP2 and NLRP5 cause female infertility characterised by early embryonic arrestSemantic proximity Read ↗

Expanding the genetic and phenotypic spectrum of the subcortical maternal complex genes in recurrent preimplantation embryonic arrest.Semantic proximity Read ↗

Identification of Novel SCMC Gene Variants Associated With Early Embryonic Arrest.Semantic proximity Read ↗

NLRP7 participates in the human subcortical maternal complex and its variants cause female infertility characterized by early embryo arrest.Semantic proximity Read ↗

A novel homozygous mutation in the NLRP2 gene causes early embryonic arrest.Semantic proximity Read ↗

Novel mutations in NLRP5 and PATL2 cause female infertility characterized by primarily oocyte maturation abnormality and consequent early embryonic arrest.Semantic proximity Read ↗

Variants in NLRP2 and ZFP36L2, non-core components of the human subcortical maternal complex, cause female infertility with embryonic development arrestSemantic proximity Read ↗

A novel variant in TLE6 is associated with embryonic developmental arrest (EDA) in familial female infertility.Semantic proximity Read ↗

Genetic variants underlying developmental arrests in human preimplantation embryosSemantic proximity Read ↗

Novel mutations in genes encoding subcortical maternal complex proteins may cause human embryonic developmental arrest.Semantic proximity Read ↗

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